Výsledky vyhledávání - Hilde Peeters

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  1. 1
    Shooting a moving target. Researching autism genes: An interview study with professionals

    Shooting a moving target. Researching autism genes: An interview study with professionals Autor Kristien Hens, Hilde Peeters, Kris Dierickx

    Vydáno 2015
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  2. 2
    Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective

    Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective Autor Kristien Hens, Hilde Peeters, Kris Dierickx

    Vydáno 2016
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  3. 3
    Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example

    Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example Autor Veerle De Wolf, Nathalie Brison, Koenraad Devriendt, Hilde Peeters

    Vydáno 2013
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  4. 4
    Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature

    Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature Autor Eva Van Steijvoort, Davit Chokoshvili, Jeffrey W. Cannon, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry

    Vydáno 2020
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  5. 5
    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms Autor Mala Isrie, Yvonne Hendriks, N Gielissen, Erik A. Sistermans, Marjolein H. Willemsen, Hilde Peeters, Joris Vermeesch, Tjitske Kleefstra, Hilde Van Esch

    Vydáno 2011
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  6. 6
    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders Autor Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Vermeesch

    Vydáno 2025
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  7. 7
    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing Autor Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2018
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  8. 8
    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies Autor Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M.E. van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2016
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  9. 9
    Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

    Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge Autor Lore Lannoo, Khaila van Straaten, Jeroen Breckpot, Nathalie Brison, Luc De Catte, Eftychia Dimitriadou, Eric Legius, Hilde Peeters, Ilse Parijs, Olga Tšuiko, Leen Vancoillie, Joris Vermeesch, Griet Van Buggenhout, Kris Van Den Bogaert, Kristel Van Calsteren, Koenraad Devriendt

    Vydáno 2022
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  10. 10
    Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

    Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management Autor Baran Bayindir, Luc Dehaspe, Nathalie Brison, Paul Brady, Simon Ardui, Molka Kammoun, Lars van der Veken, Klaske D. Lichtenbelt, Kris Van Den Bogaert, Jeroen Van Houdt, Hilde Peeters, Hilde Van Esch, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2015
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  11. 11
    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator Autor Aimé Lumaka, Nele Cosemans, Aimée Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Kasole Lubala, Sébastien Mbuyi‐Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy de Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Léon Mutesa, Alain Verloès, Prosper Lukusa-Tshilobo, Koenraad Devriendt

    Vydáno 2016
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  12. 12
    Human Plasma Glycome in Attention-Deficit Hyperactivity Disorder and Autism Spectrum Disorders

    Human Plasma Glycome in Attention-Deficit Hyperactivity Disorder and Autism Spectrum Disorders Autor Nela Pivac, Ana Knežević, Olga Gornik, Maja Pučić‐Baković, Wilmar Igl, Hilde Peeters, An Crepel, Jean Steyaert, Mislav Novokmet, Irma Redžić, Matea Nikolac Perković, Vesna Novković Hercigonja, Katarina Dodig Ćurković, Mario Ćurković, Gordana Nedić Erjavec, Dorotea Mück‐Šeler, Fran Borovečki, Igor Rudan, Gordan Lauc

    Vydáno 2010
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  13. 13
    Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells

    Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells Autor Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew L. O’Sullivan, Amirhossein Jalali, Eva Forman, Sally Ann Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters, Peter Dockery, Timothy O’Brien, Leo R. Quinlan, Louise Gallagher, Sanbing Shen

    Vydáno 2019
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  14. 14
    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome Autor Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn, Elyes Chabchoub, Víctor Hernández-Hernández, Hanan E. Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela Ferraz Leal, Bruno Dallapiccola, Franco A. Carnevale, Maria Bitner‐Glindzicz, Melissa Lees, Raoul C. M. Hennekam, Philip Stanier, Alan J. Burns, Hilde Peeters, Fowzan S. Alkuraya, Philip L. Beales

    Vydáno 2011
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  15. 15
    Insights into the genetic architecture of the human face

    Insights into the genetic architecture of the human face Autor Julie D. White, Karlijne Indencleef, Sahin Naqvi, Ryan J. Eller, Hanne Hoskens, Jasmien Roosenboom, Myoung Keun Lee, Jiarui Li, Jaaved Mohammed, Stephen Richmond, Ellen E. Quillen, Heather Norton, Eleanor Feingold, Tomek Swigut, Mary L. Marazita, Hilde Peeters, Greet Hens, John R. Shaffer, Joanna Wysocka, Susan Walsh, Seth M. Weinberg, Mark D. Shriver, Peter Claes

    Vydáno 2020
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  16. 16
    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID Autor Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier, Cherie Green, Jennifer Gerdts, Kali Witherspoon, Tjitske Kleefstra, Marjolein H. Willemsen, Raman Kumar, Paolo Bosco, Marco Fichera, Denglin Li, David G. Amaral, Francesca Cristofoli, Hilde Peeters, E Haan, Corrado Romano, Heather C. Mefford, Ingrid E. Scheffer, Jozef Gécz, Bert B.A. de Vries, Evan E. Eichler

    Vydáno 2015
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  17. 17
    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype Autor Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H. Gerkes, Mariëtte J.V. Hoffer, Denise Horn, Sarina G. Kant, Didier Lacombe, Eyby Leon, Saskia M. Maas, Daniela Melis, Valentina Muto, Soo‐Mi Park, Hilde Peeters, Dorien J.M. Peters, Rolph Pfundt, Conny M.A. van Ravenswaaij‐Arts, Marco Tartaglia, Raoul C. M. Hennekam

    Vydáno 2016
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  18. 18
    Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders

    Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders Autor Zafar Iqbal, Geert Vandeweyer, Monique van der Voet, Ali Muhammad Waryah, Muhammad Yasir Zahoor, Judith A. Besseling, Laura Tomas Roca, Anneke T. Vulto‐van Silfhout, Bonnie Nijhof, Joseph Kramer, Nathalie Van der Aa, Muhammad Ansar, Hilde Peeters, Céline Helsmoortel, Christian Gilissen, Lisenka E.L.M. Vissers, Joris A. Veltman, Arjan P.M. de Brouwer, R. Frank Kooy, Sheikh Riazuddin, Annette Schenck, Hans van Bokhoven, Liesbeth Rooms

    Vydáno 2013
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  19. 19
    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Autor Nina De Rocker, Sarah Vergult, David A. Koolen, Eva Jacobs, Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie M.H.F. Bongers, Thomy de Ravel, Koenraad Devriendt, Sabrina Giglio, Laurence Faivre, Shelagh Joss, Saskia M. Maas, Nathalie Marle, Francesca Novara, Małgorzata J.M. Nowaczyk, Hilde Peeters, Abeltje M. Polstra, Filip Roelens, Carla Rosenberg, Julien Thévenon, Zeynep Tümer, Suzanne Vanhauwaert, Konstantinos Varvagiannis, Andy Willaert, Marjolein H. Willemsen, Marjolaine Willems, Orsetta Zuffardi, Paul Coucke, Frank Speleman, Evan E. Eichler, Tjitske Kleefstra, Björn Menten

    Vydáno 2014
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  20. 20
    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development Autor Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, A Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve E. Bakken, Brian J. O’Roak, Matthew Pawlus, Randall T. Moon, Jay Shendure, David G. Amaral, Ed S. Lein, Julia Rankin, Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler

    Vydáno 2014
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